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HelpTest ID PGXQP Focused Pharmacogenomics Panel, Varies
Specimen Required
Submit only 1 of the following specimens:
Specimen Type: Whole blood
Container/Tube: Lavender top (EDTA)
Specimen Volume: 3 mL
Collection Instructions:
1. Invert several times to mix blood.
2. Send whole blood specimen in original tube. Do not aliquot.
Specimen Stability Information: Ambient (preferred) 9 days/Refrigerated 30 days
Specimen Type: Saliva
Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.
Supplies: Saliva Swab Collection Kit (T786)
Specimen Volume: 1 Swab
Collection Instructions: Collect and send specimen per kit instructions.
Additional Information: Due to lower concentration of DNA yielded from saliva, testing cannot proceed to reflex testing for 2D6 sequencing and will stop after initial testing is complete.
Specimen Stability Information: Ambient 30 days
Specimen Type: Extracted DNA
Container/Tube: 2-mL screw top tube
Specimen Volume: 100 mcL (microliters)
Collection Instructions:
1. The preferred volume is 100 mcL at a concentration of 50 ng/mcL.
2. Provide concentration of DNA and volume on tube.
Specimen Stability Information: Frozen (preferred) 1 year/Ambient/Refrigerated
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:
-Neurology Specialty Testing Client Test Request (T732)
-Therapeutics Test Request (T831)
-Cardiovascular Test Request (T724)
Secondary ID
610057Useful For
Preemptive or reactive genotyping of patients for pharmacogenomic purposes
Providing an assessment for genes with strong drug-gene associations
Reflex Tests
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| 2D61Z | CYP2D6 Full Gene Sequence | No, (Bill Only) | No |
| 2D62Z | CYP2D6 GEN CYP2D6-2D7 Hybrid | No, (Bill Only) | No |
| 2D63Z | CYP2D6 GEN CYP2D7-2D6 Hybrid | No, (Bill Only) | No |
| 2D64Z | CYP2D6 Nonduplicated Gene | No, (Bill Only) | No |
| 2D65Z | CYP2D6 5' Gene DUP/MLT | No, (Bill Only) | No |
| 2D66Z | CYP2D6 3' Gene DUP/MLT | No, (Bill Only) | No |
Testing Algorithm
If a specimen requires follow-up for CYP2D6, then reflex testing will be performed as appropriate at an additional charge.
For more information see CYP2D6 Comprehensive Cascade Testing Algorithm.
Special Instructions
Method Name
Real Time Polymerase Chain Reaction (RT-PCR) with Allelic Discrimination Analysis/PCR followed by DNA Sequencing, when appropriate
Reporting Name
Focused Pharmacogenomics Panel, VSpecimen Type
VariesSpecimen Minimum Volume
Whole Blood: 1 mL
Saliva, extracted DNA: see Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Varies | Varies | |
Clinical Information
This panel provides a comprehensive analysis for multiple genes with strong drug phenotype associations. Each sample is tested for specific variations with known functional impact. Pharmacogenomic data for the following specific variants are reviewed and reported (if present):
-CYP1A2 *1F, *1K, *6, and *7
-CYP2C9 *2, *3, *4, *5, *6, *8, *9, *11, *12, *13, *14, *15, *16, *17, *18, *25, *26, *28, *30, *33, and *35
-CYP2C19 *2, *3, *4, *5, *6, *7, *8, *9, *10, *17, and *35
-CYP2D6 *2, *3, *4, *4N, *5, *6, *7, *8, *9, *10, *11, *12, *13, *14A (now known as *114), *14B (now known as *14), *15, *17, *29, *35, *36, *41, *59, *68, and CYP2D6 gene duplication; additional CYP2D6 variants may be detected through the reflex testing process
-CYP3A4 *8, *11, *12, *13, *16, *17, *18, *22, and *26
-CYP3A5 *3, *6, *7, *8, and *9
-CYP4F2 *3
-rs12777823G>A
-SLCO1B1 rs4149056 (*5)
-VKORC1 c. -1639G>A, c.85G>T, c.106G>T, c.121G>T, c.134T>C, c.172A>G, c.196G>A, c.358C>T, and c.383T>G
Based on the results of each assay, a genotype is assigned, and a phenotype is predicted for each gene. Assessment of multiple genes may assist the ordering clinician with personalized drug recommendations, avoidance of adverse drug reactions, and optimization of drug treatment.
Reference Values
An interpretive report will be provided.
Cautions
Specimens may contain donor DNA if obtained from patients who received non-leukoreduced blood transfusions or allogeneic hematopoietic stem cell transplantation. Results from specimens obtained under these circumstances may not accurately reflect the recipient's genotype. For individuals who have received blood transfusions, the genotype usually reverts to that of the recipient within 6 weeks. For individuals who have received allogeneic hematopoietic stem cell transplantation, a pretransplant DNA specimen is recommended for testing. Genetic test results in patients who have undergone liver transplantation may not accurately reflect the patient's genetic status for the genes on this panel.
This test is not designed to provide specific dosing recommendations and is to be used as an aid to clinical decision making only. Results should be used along with other clinical and laboratory data. Drug-label guidance should be used when dosing patients with medications regardless of the predicted phenotype.
For additional information, see the following tests:
-1A2Q / Cytochrome P450 1A2 Genotype, Varies
-2C9QT / Cytochrome P450 2C9 Genotype, Varies
-2C19R / Cytochrome P450 2C19 Genotype, Varies
-2D6Q / Cytochrome P450 2D6 Comprehensive Cascade, Varies
-3A4Q / Cytochrome P450 3A4 Genotype, Varies
-3A5Q / Cytochrome P450 3A5 Genotype, Varies
-SLC1Q / Solute Carrier Organic Anion Transporter Family Member 1B1 (SLCO1B1) Genotype, Statin, Varies
-WARSQ / Warfarin Response Genotype, Varies
Day(s) Performed
Monday through Friday
Report Available
3 to 14 daysPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.CPT Code Information
0029U
0071U (if appropriate)
0072U (if appropriate)
0073U (if appropriate)
0074U (if appropriate)
0075U (if appropriate)
0076U (if appropriate)